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The United States and Canadian Academy of Pathology (USCAP) hosts an annual event which aims to be the largest and most influential world meeting of pathologists. This year’s event was held March 13-18.

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Dr_Craig_Mackinnon_UAB

Thermo Fisher Scientific USCAP 2021 Workshop

Evaluation of the Genexus System for Translational Research Using Human Tissue Research Specimens

Alexander Craig Mackinnon, MD, PhD | University of Alabama at Birmingham

To identify genetic variants in archival human samples, researchers need a powerful NGS platform that can accommodate input DNA and RNA that is often low quality and/or low quantity. This challenge is compounded the diversity of frequently co-existing complex variants underlying somatic changes. Consequently, robust NGS assays capable of identifying single nucleotide variants (SNV), small indels, fusions, and copy number variation (CNV) in a single workflow are required. Molecular pathology research labs are now adopting the Ion Torrent Genexus NGS system for routine analysis of archival, formalin-fixed, paraffin embedded (FFPE) human tissue samples. Compared to earlier NGS-based assays, the Genexus System offers several important advantages. The amount of input DNA and RNA is lower than other assays permitting testing of a wider range of samples. Sequencing costs are reduced due to lower reagent costs and less hands-on time. Turnaround times are significantly faster. The Genexus assays are sensitive for detecting challenging variants such indels and copy number variation, as well as sequencing G-C rich DNA. Examples several classes of genetic variants detected in archival, human FFPE samples using the Genexus are provided to demonstrate the performance of the Genexus NGS system.

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